Incidental Mutation 'R8385:Lfng'
ID 647112
Institutional Source Beutler Lab
Gene Symbol Lfng
Ensembl Gene ENSMUSG00000029570
Gene Name LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms lunatic fringe
MMRRC Submission 067751-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R8385 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 140593096-140601300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140598981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 297 (E297K)
Ref Sequence ENSEMBL: ENSMUSP00000031555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031555]
AlphaFold O09010
Predicted Effect probably damaging
Transcript: ENSMUST00000031555
AA Change: E297K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: E297K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 37 60 N/A INTRINSIC
Pfam:Fringe 107 357 9.6e-124 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a short tail and abnormal rib, somite, and lung development. Mice homozygous mice exhibit reduced female fertility, abnormal hair cells, and abnormal axial skeleton morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brap C T 5: 121,823,197 (GRCm39) T473I probably benign Het
Cacna1e T A 1: 154,319,687 (GRCm39) M1400L probably damaging Het
Catsper2 A G 2: 121,240,621 (GRCm39) I127T possibly damaging Het
Dbt A T 3: 116,317,039 (GRCm39) I72F probably damaging Het
Ddhd2 T C 8: 26,225,041 (GRCm39) H592R probably damaging Het
Disp2 T A 2: 118,620,891 (GRCm39) M541K probably damaging Het
Dnai7 C T 6: 145,120,918 (GRCm39) E685K probably damaging Het
Dnmbp T C 19: 43,878,090 (GRCm39) D327G probably benign Het
Dvl1 A G 4: 155,940,037 (GRCm39) S390G possibly damaging Het
Fbxo22 A G 9: 55,121,233 (GRCm39) D106G probably damaging Het
Gfm2 A G 13: 97,301,519 (GRCm39) T441A probably benign Het
Gm5431 T C 11: 48,780,347 (GRCm39) I192V probably damaging Het
Gosr1 T A 11: 76,620,967 (GRCm39) T241S possibly damaging Het
Hk2 T C 6: 82,706,527 (GRCm39) S792G probably benign Het
Itsn1 A C 16: 91,690,699 (GRCm39) K1302Q unknown Het
Kif16b T C 2: 142,554,258 (GRCm39) K847E probably benign Het
Mark3 A G 12: 111,621,808 (GRCm39) D650G possibly damaging Het
Mgat4f A G 1: 134,318,376 (GRCm39) K383E probably benign Het
Mob3b T C 4: 34,985,980 (GRCm39) Y186C probably damaging Het
Mphosph9 T C 5: 124,450,785 (GRCm39) K329E probably benign Het
Mta1 A T 12: 113,095,085 (GRCm39) M448L probably benign Het
Mterf1a A T 5: 3,941,384 (GRCm39) N161K probably damaging Het
Myo10 T A 15: 25,804,484 (GRCm39) I1593N probably damaging Het
Naca A G 10: 127,878,307 (GRCm39) N1113S unknown Het
Or2w4 T C 13: 21,795,522 (GRCm39) I206V probably benign Het
Or5e1 T G 7: 108,354,511 (GRCm39) Y149* probably null Het
Pcdhga1 A T 18: 37,795,149 (GRCm39) D51V probably damaging Het
Peg3 T C 7: 6,711,082 (GRCm39) E1380G probably damaging Het
Pkd1 G A 17: 24,794,702 (GRCm39) V2130M possibly damaging Het
Pla2g4c C T 7: 13,063,589 (GRCm39) P19S probably benign Het
Popdc2 G A 16: 38,183,262 (GRCm39) V82I probably benign Het
Ppfibp2 A G 7: 107,296,894 (GRCm39) R203G probably benign Het
Rab19 T A 6: 39,360,892 (GRCm39) N13K probably benign Het
Raet1d T A 10: 22,246,817 (GRCm39) D48E probably benign Het
Rell1 T A 5: 64,087,861 (GRCm39) K136* probably null Het
Slc38a4 A G 15: 96,897,393 (GRCm39) I474T probably damaging Het
Slf1 T C 13: 77,254,109 (GRCm39) M243V probably benign Het
Spata31f1a C T 4: 42,850,509 (GRCm39) R549H possibly damaging Het
Speer4c2 A T 5: 15,857,669 (GRCm39) S203T unknown Het
Spg11 A T 2: 121,927,802 (GRCm39) S661T probably benign Het
Thra C G 11: 98,659,177 (GRCm39) S435R probably benign Het
Tmem181a T C 17: 6,339,274 (GRCm39) I61T probably benign Het
Ttpa G A 4: 20,028,483 (GRCm39) G247S probably damaging Het
Usp17lb C T 7: 104,489,830 (GRCm39) V366I possibly damaging Het
Vit A T 17: 78,927,066 (GRCm39) Q337L probably benign Het
Vmn2r102 A G 17: 19,914,088 (GRCm39) Y551C possibly damaging Het
Vps52 T C 17: 34,181,791 (GRCm39) L539P probably damaging Het
Ythdc1 C A 5: 86,975,961 (GRCm39) P529T possibly damaging Het
Zdhhc13 T C 7: 48,455,444 (GRCm39) probably null Het
Zfp282 A T 6: 47,882,023 (GRCm39) Y570F possibly damaging Het
Zfp872 A T 9: 22,111,407 (GRCm39) K295N probably damaging Het
Other mutations in Lfng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Lfng APN 5 140,598,290 (GRCm39) missense probably damaging 1.00
zigzag UTSW 5 140,598,290 (GRCm39) missense probably damaging 1.00
PIT4305001:Lfng UTSW 5 140,598,283 (GRCm39) missense probably damaging 1.00
R2070:Lfng UTSW 5 140,598,350 (GRCm39) missense possibly damaging 0.63
R2848:Lfng UTSW 5 140,597,622 (GRCm39) missense probably damaging 1.00
R2849:Lfng UTSW 5 140,597,622 (GRCm39) missense probably damaging 1.00
R4689:Lfng UTSW 5 140,600,194 (GRCm39) missense probably damaging 0.99
R4936:Lfng UTSW 5 140,598,150 (GRCm39) splice site probably null
R5516:Lfng UTSW 5 140,599,018 (GRCm39) missense probably damaging 1.00
R5560:Lfng UTSW 5 140,600,022 (GRCm39) missense possibly damaging 0.89
R6334:Lfng UTSW 5 140,598,522 (GRCm39) missense possibly damaging 0.86
R6380:Lfng UTSW 5 140,600,151 (GRCm39) splice site probably null
R6627:Lfng UTSW 5 140,593,523 (GRCm39) missense probably damaging 1.00
R7832:Lfng UTSW 5 140,598,588 (GRCm39) missense probably benign 0.07
R7853:Lfng UTSW 5 140,593,384 (GRCm39) missense probably benign 0.01
R8367:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8368:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8384:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8407:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8435:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8494:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8896:Lfng UTSW 5 140,598,978 (GRCm39) missense probably benign 0.15
R9803:Lfng UTSW 5 140,593,528 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGAAGGACTCTGGCTCATG -3'
(R):5'- AATTGTCCCTTCCTTGGAGG -3'

Sequencing Primer
(F):5'- GGCATAGTGGACTCCCTCTTTTTG -3'
(R):5'- CCTTCCTTGGAGGCACCC -3'
Posted On 2020-09-02